Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr12:56749256
- GRCh38:
- Chr12:56355472
| STAT2 | R148W, R144W | Pseudo-TORCH syndrome 3 | Pathogenic
(Jul 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr12:56749255
- GRCh38:
- Chr12:56355471
| STAT2 | R148Q, R144Q | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | Uncertain significance
(Nov 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:56740270
- GRCh38:
- Chr12:56346486
| STAT2 | R663Q, R667Q | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Pseudo-TORCH syndrome 3, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
| Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:56750322
- GRCh38:
- Chr12:56356538
| STAT2 | S12G | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Pseudo-TORCH syndrome 3, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,
Inborn genetic diseases | Uncertain significance
(Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |